COSMIC:
COSM6351475 (not active)
COSM6351476 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1835076 (SAS)
Genomes Max Group AF
0.16547194 (SAS)
Exomes Max Group AF
0.18402395 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4738927G>A , CM000679.2:g.4738927G>A | GRCh38 |
| NC_000017.10:g.4642222G>A , CM000679.1:g.4642222G>A | GRCh37 |
| NC_000017.9:g.4588971G>A | NCBI36 |
| NG_034160.1:g.3913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.80-7C>T MANE Select | ENSP00000293778.7:n.80-7C>T | |
| ENST00000574412.6:c.80-7C>T | ENSP00000459592.2:n.80-7C>T | |
| ENST00000293778.10:c.137-7C>T | ENSP00000293778.6:n.137-7C>T | |
| ENST00000573123.1:c.-90C>T | ENSP00000460145.1:n.-90C>T | |
| ENST00000574412.5:c.137-7C>T | ENSP00000459592.1:n.137-7C>T | |
| NM_001100812.1:c.137-7C>T | NP_001094282.1:n.137-7C>T | |
| NM_022059.3:c.137-7C>T | NP_071342.2:n.137-7C>T | |
| NM_022059.4:c.137-7C>T | NP_071342.2:n.137-7C>T | |
| NM_001100812.2:c.80-7C>T | NP_001094282.2:n.80-7C>T | |
| NM_001386809.1:c.80-7C>T MANE Select | NP_001373738.1:n.80-7C>T |